Sunday, November 04, 2012

NIH News, Part 1

NIH trip
We are home!! Talk about a whirlwind...both literally and not so much... we are still "reeling" from all the new info we learned at NIH and how to best act on it...but I'll attempt to give a reader's digest version here ...

If you haven't been keeping up, we flew in to Bethesda MD on Sunday afternoon last week to take part in the National Institutes of Health's Undiagnosed Disease Program. We almost didn't get to fly out due to Hurricane Sandy but by God's grace the flight did not get canceled so we got into town just in time before the storm hit. Getting in was pretty intense (entering involves car searches and major security measures because we were visiting a government compound basically). After arriving, we found out the NIH had to close down for Monday and Tuesday due to the DC area's metro train system shutting down.
NIH - The Children's Inn
Arriving at The Children's Inn

NIH The Children's Inn
A rainy 2 days (the view out our window of the Clinical Center)
So for two days (Monday and Tuesday) we hung out at The Children's Inn at NIH, if you ever have to get stuck somewhere, this is the place to do it ;)  They had volunteers who cooked us dinner twice, a stocked pantry, kitchen, playroom, crafts room, game room, computer lab, library, google TV...there was plenty to do for Micah and thankfully, we never lost power!

Early Wednesday we were all admitted and that's when the real hurricane hit! We met Mason's team (the biggest blessing of the whole trip were the people on our team--they were the most kind-hearted, dedicated, interested, thorough medical pros we have ever had the pleasure to know!!...from sun-up to sundown, the boys were their "patients of the week" and we've never experienced anything like the sole focus we were given! We are used to seeing docs once a day on rounds. This team worked tirelessly ALL DAY with us, asking questions, seeking input, nonstop trying to get in histories, physicals, tests that were originally planned plus adding new ones on the spot as the need came up, with results to most immediately available (not the genetic stuff of course, but almost everything else...) -- basically getting everything done we could physically do in 3 days, with barely a moment to spare even to sit for a snack or drink ;) So...despite being exhausted and stressed to the was an AMAZING week and unforgettable and even if we never learn another thing from the trip, we gained invaluable direction and insights that will help us for years to come. Here are some of the things we did...and what we learned...

NIH The Children's InnNIH The Children's Inn

NIH The Children's Inn

NIH The Children's InnNIH The Children's Inn

mail time at NIH The Children's Inn
Treat in the mail every day!!

Clown nose from the mailbox!
Micah saw his own litany of doctors and specialists including neurology, physiatry (a rehab medical doctor), rheumatology, immunology, speech, PT, OT, genetics) to try to sort out the muscle issues that have been mentioned by his physical therapist. Micah's muscle weakness issues seem to happen with infections, possibly related to autoimmunity or his thyroid condition. We are not sure if our family's thyroid issues are autoimmune or not, since no one ever shows autoantibodies, just high TSH. We are to have him followed by a pediatric endocrinologist (he is tall and heavy for a 5 year old) to follow his growth and development, and to do labs (TSH, T4, antibody panel, sed red, complement CRP, cortisol) when he is actually sick. Since Micah didn't have an active infection at the time of the exams, his muscles were only mildly weaker than usual, in the hips. However he has "diffuse and significant hypermobility" all over his body (meaning a defect of his collagen or adhesion've seen those laminin videos by Louie Giglio? Kinda like that. The glue that holds him together (the ligaments and soft tissues that keeps his bones and joints in place, is either defective or damaged.) Everyone was convinced he should join the circus :) So...his profound looseness has caused him to APPEAR to have hypotonia to his dr and therapists because his trunk and limbs aren't held up/supported properly. He actually has a joint laxity syndrome related perhaps to Ehlers Danlos syndrome, that makes it much harder to do the same things physically as other kids. Although he already wears orthotics, the neuro-rehab dr said his are not nearly supportive enough so we will be getting him some custom ones made. The reason for his sensory issues hasn't really been determined yet (he didn't have any imaging just bloodwork). He also needs to see a gastroenterologist for possibly undiagnosed GI issues (Hirshprung disease is what they want to rule out for him). They told me the same items that Micah needs to watch for/be treated for, so do I.

BOTTOM LINE: The concern level for progressive neuromuscular conditions is much lower for Micah! Micah's biggest issue is probably a connective tissue disorder - a hypermobility syndrome that does not appear to be a milder version of what Mason has, but rather a separate syndrome that is a more severe presentation of the loose joint condition I have. Since we dont know the source of the hypermobility yet (skin biopsies can help), we don't know if it will get worse or if it affects other organs besides ligaments/joints/soft tissue or not, but it's possible it could improve as he grows. He will need intense PT and probably OT all his childhood and probably longer to maintain muscle strength needed to compensate for the laxity so he can keep up with his peers better. It does not affect his intelligence one bit and he is a very smart little guy :) We'll keep an eye on his thyroid/autoimmune/muscle issues and see a GI dr. and physiatrist for better orthotics and management.


Yes, Mason also has the profound hypermobility issues that Micah has, plus a lot more...a difficult "double whammy" they said, but the general impression is that he doesn't have a "worse" presentation of the hypermobility, just that he has laxity of tissues in combination with some other worse genetic condition on top of it. The search is on for what has caused that "other" condition. They are hoping that condition was a random event (not inherited). Here is their testing approach for Mason:

1. Test for KNOWN single gene mutations that cause syndromes SIMILAR to what he has (he has features of these conditions but not "typical appearance or presentation"). These tests have already been sent out, awaiting results, and include mutations for CHARGE syndrome and Rubenstein-Taybi syndrome. Tests are also being sent for Congenital Disorders of Glycosylation (because the Dandy Walker malformation of his brain alone should not cause epilepsy or such profound muscle affects as Mason has). They haven't ruled out mitochondrial disease. They will also test my blood for "x-inactivation" issues (this one is too complicated to explain in the blog but you can google it if you have interest.)

2. If none of the known conditions pan out, research will begin to test for new conditions. We already know Mason is missing 14 genes on chromosome 17. But everyone has two copies of genes on the numbered (autosomal) chromosomes, one set from each of their parents. Usually, missing one set of genes just makes you a "carrier" for problems unless the condition is DOMINANT (you only need to have one missing or mutated causative gene to create the disease). It may be that the hypermobility issues are related to the deletion as a DOMINANT condition...but it's only when BOTH sets of genes are missing or mutated that you have big problems because then the body has nothing to compensate for those missing or damaged gene products. Because Micah and I carry the same deletion, it's unlikely the cause for his syndrome by itself. But if Brian has a mutation on one of those same 14 genes that Mason is already missing, and he gave him his mutated gene from the same area as the deletion I gave him, that would create a new autosomal recessive condition never before seen. We would then be going back to NIH for more research to characterize this new syndrome.

3. If there are no new conditions related to the deletion, testing will expand using a newer process called whole genome exome testing. In other words, every gene that produces proteins in the entire body will be systematically checked for mutations and compared to Micah's and mine to try to locate the cause of his syndrome. This is a a very expensive and inaccessible test to most people right now so to have this freely available if needed is an overwhelming blessing!

Besides the genetic testing in progress (which could take weeks to years to lead to any answer...but we will now be in the program as long as it exists and will be followed indefinitely in the event similar cases inform ours as the years go by) amazing collection of clinical data was collected this week. We know a TON of new things about Mason including:

NIH The Children's Inn
  • he has a cleft/bifid tongue and many other "midline defects" that will help them understand the biological cause of his syndrome
  • he can't turn his eyes outward either way to look to the sides much ("Duane syndrome" of the eyes) which along with his limb defects helps them have clues as to what genes to look at first
  • he has blocked tear ducts causing his constant eye discharge (earlier we were told the ducts weren't blocked) which can be treated but may need multiple probing attempts to clear
  • he has an ectopic posterior pituitary gland (the back part of his pituitary gland is in the wrong place in his brain) and pending testing may show if any hormones are affected
  • his brain is laying down white matter and insulating the nerves (aka things are getting better not worse, but just slowly!!!!)
  • he doesn't really have any sinuses to speak of yet
  • he has central and peripheral components to his hearing loss and needs a ct scan of his temporal bones in his ears to help with characterizing things better
  • he may also have Hirshrung ultrashort segment disease of his GI system and needs further testing including colonoscopy (they really wanted us to stay at least another week to get all this done but logistically it wasn't practical right now for us to stay longer)...they also gave a wonderful new wound wash product and barrier cream for his gtube site/granulation tissue that is neither steroid nor burning like silver nitrate and works GREAT. They also gave better tips for venting...
  • he has asymmetry of his chest and back and rotation of his ribs for further clues
  • he has a small liver
  • he needs further testing to find out the anatomical reason for his frequent UTIs and a plan for prevention (even boys w/o any functional immune systems dont get recurrent UTIs so there must be a bigger reason than immunity or dirty diapers)
  • we need some new doctors including a complex care pediatrician to coordinate his testing and treatments, kidney doctor, physiatrist (a rehab medicine dr to coordinate and manage equipment and assistive tech needs), and maybe new neurologist
  • he still swallows without aspirating and needs desperately speech therapy added to his regime
  • we were given a new vibration toy for him to learn to hold things/desenstize some defensiveness
  • He may not outgrow his immune deficiency but he is on a good treatment already for it (IgG infusions). They found out he makes plenty of B cells but they need to figure out why those B cells aren't producing antibodies IgG, A or M and what other components there are to his issues.
NIH The Children's Inn
And that's not even everything..he also had an EEG, skeletal survey, skin biopsy and labs that were still pending which will tell us even more. What is the point of knowing all this for our family? Much of this new info gives us points for action--things that are treatable and give him a much better quality of life if fixed! Many syndromes are also associated with various health problems that, if you know about them, you can screen for and treat associated problems early enough to avoid drastic consequences (ie, specific types of cancer). But if you don't know what to screen for, you may find out too late to do anything about it. It may also help other babies born with similar problems to have a support, possible prognosis, etc. Most of all...we want others to know that even if we never find the answer this side of Heaven, we know the One who does and He's the one who's leading us down this path and opening these we are waiting to see what His plan reveals a day at a time. Thank you all for your continued prayers and support, it means the world to us, and we praise God for bringing this amazing team into our lives and offering us all the resources at their disposal to help our little guys get the best care, assistance and treatment to maximize their potential!


  1. This is amazing! How did you guys get involved with this program/opportunity through the NIH? I pray they have more answers for you as well. Obviously, you know we are in your same shoes and know exactly how you feel about having answers and the reasons behind wanting those answers. God Bless!

  2. Thanks for the update. So glad you had 3 full days of testing. We were concerned that hurricane Sandy would keep you from getting much done. Sounds like you have learned quite a bit! Praying it is helpful in treating both of the boys. Love all of you!

  3. So glad you had this opportunity and ongoing support from this program. Hopefully you will find out a lot more from it in days to come.

  4. what is the new wound wash and cream you mentioned for G-tube sites? I'm interested for trenton. I'm that was a lot for you all to take in. I hope they discover more as time goes by.

  5. Hi- your blog is very interesting to me. My son is blind, (Bilateral PFVS - detached retinas), microcephaly, g-tube due to feeding refusal, some hypertone, hypoplastic corpus callosum. He was tested for Dandy Walker but does not have it, though some similar features.

    We too live in the undiagnosed world.

    Glad the NIH experience went so well for you. I write a blog about my son at

    Happy to have found you!



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